Jerzy Bal

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 551 citations · Full text

Genetic Disorder, Genetics, Audiology +9

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 248 citations · Full text

Molecular Diagnostic Techniques, Molecular Physiology, Disease Mechanism +10

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus et al. · Human Genetics · 2000 · 145 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients

Susan Kupka, Tímea Tóth, Maciej Wróbel et al. · Human Mutation · 2002 · 101 citations · Full text

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease

Dorota Hoffman‐Zacharska, Dariusz Koziorowski, Owen A. Ross et al. · Parkinsonism & Related Disorders · 2013 · 84 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Biochemistry +11